Varaico: Literature-Extracted Genetic Variants

Gene:COL9A1
Variant:p.S351*
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COL9A1

NM_001851.6:p.S351*

Associated Papers

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

AlEissa MM et al.

Genes, 2025

FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

Alsubaie HF et al.

Retinal Cases & Brief Reports, 2023

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Khan AO et al.

Molecular Genetics & Genomic Medicine, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."